Rare disease

A Common Pathway for a Rare Disease Article Review Tyler Whitehead Cellular Biology Dr. Janick-Buckner October 2, 2014 A Common Pathway for a Rare Disease is an article published in Science, in December 2013 and was published by Scott B. Vafai and Vamsi K. Mootha. The objective of this article was to raise awareness of the, at the time, newly developed research regarding Leigh Syndrome, a rare disease that effects mostly newly born and developing babies. The research linked the effectiveness

Creutzfeldt-Jakob disease (CJD) It is a rare, degenerative but fatal brain disorder affecting very a small fraction of persons. The symptoms usually arise at the age of 60 and the person dies within a year. Many researchers believe that this disorder is the result of an abnormal protein known as prion. About 5-10% cases reported in the United States share a genetic basis where this form of dementia is caused by a mutation in the gene for the prion protein. Patients with Creutzfeldt-Jakob disease suffer from

Huntington 's Chorea or Huntington 's Disease is a rare progressive genetic disorder which afflicts roughly 7 out of every 100,000 people in North America (Rawlins, 2016, pp. 144–153). The disease manifests primarily in tissues of the brain, and affects the shutdown of many primary functions including speech, movement, and cognitive abilities. With a strong genetic component, there is a 50% chance of just one parent passing the gene linked with Huntington 's Disease along to offspring; additionally,

What is integrative studies? Integrative studies is the ability to form bridges between different areas of knowledge creating a network of information. Thus, allowing us to see each individual area in it’s own right but also how the areas do or do not function as a whole. A wonderful example of this would be a puzzle. Each individual piece is portraying a specific image or part of an image. Some puzzle pieces fit together while others do not. But once the puzzle is finished not only are you able

operations in Europe, South America, USA and Asia. BioMarin originally began developing carbohydrate enzymes for rare diseases. Their first candidate drug was Aldurazyme® which is currently being used to treat patients of Mucopolysaccharidosis (MPS-I). MPS-I patient census consists of about 3,400 patients in developed countries; 1,000 of which reside in the United States of America. Because of the rare nature of this condition and the rareness of other conditions being treated by BioMarin, they are considered

Since its inception in 1981, Genzyme, a biotechnology company, has pursued a path remarkably different from its peers: develop drugs for rare diseases rather than “blockbuster” drugs. The company continued to operate independently managing its own production, sales, and testing facilities rather than collaborating with large pharmaceutical companies. It went public in 1986, raising $27 million. By 2006, Genzyme was the world’s third-largest biotechnology company. In 2011, it was acquired by Sanofi

Introduction Congenital Insensitivity to Anhidrosis (or CIPA) is a rare genetic disease with the characteristics of not being able to feel any pain or temperature, and little or no sweating. It is inherited by an autosomal recessive pattern, meaning that both parents have a mutated NTRK1 gene, but they do not show any symptoms of CIPA. The damaged NTRK1gene produces proteins that cannot transmit signals. Since the neurons do not get any signals from the proteins, they perform apoptosis. Apoptosis

Aileen Crowley, the parents of John, Meagan, and Patrick in the book “The Cure,” by Geeta Anand. Having two of their children born with a life debilitating disease called Pompe disease, was hard to comprehend. Being told that their children have only months to live due to the fact that there was no medicine on the market to combat the disease, John decided to quit his marketing executive job to find a cure and make a drug that will save them. He invested himself and his life’s savings in a startup

Michel Lab 4 Ms Gaither Nov 17,2016 Dermatomyositis According to the headline article Dermatomyositis is a rare inflammatory disease. Its common symptoms of dermatomyositis can be a distinctive skin rash, muscle weakness, and inflammatory myopathy, or inflamed muscles. Can affect both adults and children. There’s no cure for this condition, but symptoms can be managed.Anyone can have this disease, but its most common in adults of the ages of 40 and 60 years old, and sadly in children of the of 5 to

Ectopia cordis is a rare disease that it is the abnormal position of the heart outside the thorax associated with defects in the parietal pericardium, diaphragm, sternum, and, in most cases, cardiac malformations As of 2001, 267 patients have been reported 102 (39.2%) of the thoracic type and 99 (38%) of the thoracoabdominal type. Ninety percent of the infants died in the first year of life. Cases of the cervical type rarely survive a single day. Most (95%) newborns have associated cardiac malformations